Phenotype #0000301209

Individual ID	00409094
Associated disease	-
Phenotype details	night blindness (23 y), field constriction (32 y), progressive loss of visual acuity (37 y), glare sensitivity, color deficiencies, photopsia; intellectual disability cone dystrophy; best corrected visual acuity right-left eye: hand movements-20/50; refractive error: +9.50/+11.0; visual field: concentric constriction and central scotoma with remaining peripheral islands; electroretinogram: scotopic: not detectable; photopic: not detectable; anterior segment and fundus: subcapsular cataract (bilateral), pale optic disc, narrowed vessels, well demarcated chorioretinal atrophy in the macula, single bone spicule hyperpigmentations in the mid periphery; round, well demarcated areas of chorioretinal atrophy and pigment clumping in the far periphery
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	38y (38 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-30 20:17:24 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD